Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Loughlin
J
J
Department of Cellular Science, Institute of Molecular Medicine, University of Oxford, UK.
Irven
C
C
Mustafa
Z
Z
Briggs
M D
MD
Carr
A
A
Lynch
S A
SA
Knowlton
R G
RG
Cohn
D H
DH
Sykes
B
B
D000130:Achondroplasia / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D001483:Base Sequence; D064236:Cartilage Oligomeric Matrix Protein; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D064236:Cartilage Oligomeric Matrix Protein; D017931:DNA Primers; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human; D004247:DNA